hereditary methemoglobinemia
MeSH: C580280ORPHA: 621
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with hereditary methemoglobinemia, sourced from HPO and Orphanet clinical annotations.
CyanosisMethemoglobinemiaAbnormality of the nervous systemAbnormal nail morphologyExertional dyspneaLip discolorationMicrocephalyEsotropiaBlue scleraeSpasticityGlobal developmental delayCerebellar atrophyGlobal brain atrophyAthetosisLimb dystoniaSpastic tetraplegiaCerebral hypomyelinationFrontal cortical atrophyTemporal cortical atrophySevere intellectual disabilitySevere global developmental delaySeizureHypertoniaSmall for gestational ageDelayed myelinationSmall basal ganglia
Classification & Codes
MeSH Code
C580280Orphanet Code
ORPHA:621hereditary methemoglobinemia
| MeSH | C580280 |
| Orphanet | ORPHA:621 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO